Variants in HNRNPDL and SETX Not Necessarily Indicate Familial Amyotrophic Lateral Sclerosis or Limb Girdle Muscular Dystrophy 1G in Acute Muscular Respiratory Failure

Genetic work-up is useful for the identification of a primary myopathy. However, even sophisticated genetic methods may fail to detect the underlying cause of myopathy as in the following case. The patient is a 52-year-old female with a history of epilepsy, arterial hypertension, atrial flutter requ...

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Bibliographic Details
Main Authors: Josef Finsterer, Claudia Stöllberger, Hans Keller, Franco Laccone
Format: Article
Language:English
Published: Thieme Medical and Scientific Publishers Pvt. Ltd. 2020-04-01
Series:Journal of Neurosciences in Rural Practice
Subjects:
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1709375